Clinical and research tests for C4551768 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NOTCH3 Gene, Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
NOTCH3 - MLPA Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis
NOTCH3 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	3	1	C Sequence analysis of the entire coding region
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Cerebral Small Vessel Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	24	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310, Autosomal dominant; CADASIL1 (CADASIL) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310, Autosomal dominant; CADASIL1 (CADASIL) (NOTCH3 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Cerebral Small Vessel Disease Panel PreventionGenetics, part of Exact Sciences United States	13	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 NGS test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral small vessel disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
CADASIL NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral small vessel disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CADASIL Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CADASIL Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral small vessel disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Next Generation Sequencing for FHM, EA1, EA2, SCA6, CADASIL, CARASIL, COL4A1/2, Fabry Disease, Small Vessel Disease, Epilepsy Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology Australia	18	12	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.